Toward the solution for neurodegenerative disorders with muscle atrophy: the theoretical consideration and two clinical examples of HMSN-p and myotonic dystrophy

Dear All,

Cell Signal Unit (Yamamoto Unit) would like to inform you of a seminar by Dr. Shugo Suwazono from National Hospital Organization Okinawa Hospital.

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Date: Tuesday, August 7, 2018

Time: 14:30-15:00

Venue: C016, Level C, Lab 1

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Speaker:

Dr. Shugo Suwazono, Chief of the Division of Neurology, National Hospital Organization Okinawa Hospital

Title:

Toward the solution for neurodegenerative disorders with muscle atrophy: the theoretical consideration and two clinical examples of HMSN-p and myotonic dystrophy

Abstract:

Amyotrophic lateral sclerosis (ALS), known also as ”Lou Gehrig's disease” or the disease that Prof. Stephen William Hawking had, is the most tragic disease among neurodegenerative disorders that leads to death. Other examples of neurodegenerative disorders includes Parkinson’s disease or Alzheimer’s disease. Generally, neurodegenerative disorders such as ALS are said to be impossible to perfectly cure and are the most difficult to care among many neurological disorders, especially because the patient’s breathing becomes difficult owing to respiratory muscle atrophy. The solution for these intractable disease has long been awaited.

Currently, most of the intractable diseases, including cancer and neurodegenerative disorders, are considered to be more or less associated with gene abnormalities. Once the underlying gene abnormality is resolved, it should be easily derived from the role of abnormal protein through what occurs in the neurons, theoretically. However, it is not so straightforward in understanding the pathomechanisms and establishing the therapeutic strategies in either Alzheimer’s or Parkinson’s disease, or ALS even to this date. That is probably because not only the complexed proteinopathies or RNA level disorders but probably also the clinical courses are so different within one clinical entity that we might have analyzed a wide range of abnormalities as a single disease.  To start with, a suitable (simple/definite) disease model is needed to better understand and develop a therapeutic strategy for these diseases, including dementia.

In this talk, based on the above-mentioned perspective, I will roughly review the clinical overview of neurodegenerative disorders from the viewpoint of a neurologist, how they are discussed in a similar way of understanding even with different clinical features. Then I will move to discuss about the disease “HMSN-p”, hereditary motor and sensory neuropathy Okinawa type, OMIM No. 604484 (point mutation of TRK-fused gene, location: 3q12.2), the concept of which was established in Okinawa. It is a “rare disease” with only approximately 150 patients confirmed worldwide. This distinct clinical entity, which is currently understood as caused by a single gene abnormality, may serve as a disease model to solve the main issue of neurodegenerative disorders.

From the aforementioned view, it is quite reasonable to study a disease accompanied by dementia caused by the established gene abnormality. If we have enough time, I will present some data from an event-related potential study in patients with myotonic dystrophy as an example, showing how we can analyze and describe abnormal brain higher functions physiologically in patients.

Host:
Prof. Tadashi Yamamoto (Cell Signal Unit)

We hope to see many of you at the seminar.

Best regards,

Yuki Nakagawa

Research Unit Administrator (Cell Signal Unit)